Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Example Bundle: bundle-complexVariant-nonHGVS

Bundle bundle-complexVariant-nonHGVS of type transaction

Entry 1 - Full URL = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d

Request:

POST Observation

Resource Observation:

Generated Narrative

Resource "Inline-Instance-for-complexVariant-nonHGVS-1"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory)

code: Genetic variant assessment (LOINC#69548-6)

value: Present (LOINC#LA9633-4)

component

code: Transcript ref sequence ID (LOINC#51958-7)

value: NM_022787.3 (Gene Reference Sequence Collection#NM_022787.3)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 769-769

component

code: Genomic ref allele [ID] (LOINC#69547-8)

value: G

component

code: Genomic alt allele [ID] (LOINC#69551-0)

value: A

component

code: Allelic state (LOINC#53034-5)

value: Heterozygous (LOINC#LA6706-1)

Entry 2 - Full URL = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e

Request:

POST Observation

Resource Observation:

Generated Narrative

Resource "Inline-Instance-for-complexVariant-nonHGVS-2"

Profile: Variant

status: FINAL

category: Laboratory (Observation Category Codes#laboratory)

code: Genetic variant assessment (LOINC#69548-6)

value: Present (LOINC#LA9633-4)

component

code: Transcript ref sequence ID (LOINC#51958-7)

value: NM_022787.3 (Gene Reference Sequence Collection#NM_022787.3)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 53-53

component

code: Genomic ref allele [ID] (LOINC#69547-8)

value: A

component

code: Genomic alt allele [ID] (LOINC#69551-0)

value: G

component

code: Allelic state (LOINC#53034-5)

value: Heterozygous (LOINC#LA6706-1)

Entry 3 - Full URL = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12a

Request:

POST Observation

Resource Observation:

Generated Narrative

Resource "Inline-Instance-for-complexVariant-nonHGVS-3"

Profile: Genotype

status: FINAL

category: Laboratory (Observation Category Codes#laboratory)

code: Genotype display name (LOINC#84413-4)

value: NM_022787.3(NMNAT1):c.[53A>G];[769G>A] AND Cone-rod dystrophy (clinvar#RCV000664188.1)

hasMember: